Congenital myasthenic syndrome (CMS): COLQ
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndrome (CMS): COLQ. This is caused by COLQ acetylcholine esterase deficiency. Fully referenced neurology checklist.
Genetics and pathology
- This is caused by COLQ acetylcholine esterase deficiency
- It is a synaptic CMS
Clinical features
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Treatment
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References
- Mihaylova V, Muller JS, Vilchez JJ, et al. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008; 131:747-759.
- Finlayson S, Beeson D, Palace J. Congenital myasthenic syndrome: an update. Pract Neurol 2013; 13:80-91.
- Vidanagamage A, Gooneratne IK, Nandasiri S, et al. A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: a case report. Neuromuscul Disord 2020 (Online ahead of print).
Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
- Congenital myasthenic syndrome (CMS): pathway classification
- Congenital myasthenic syndrome (CMS): general features
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- Congenital myasthenic syndrome (CMS): MUSK
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